Successful topical minoxidil treatment for hair density and length in trichorhinophalangeal syndrome type 1.

A 9-year-old girl presented with slow hair growth and hair thinning since birth. Additionally, she had short stature and abnormally short fingers; genetic testing confirmed the diagnosis of trichorhinophalangeal syndrome (TRPS) type 1. After 4 months of topical minoxidil treatment, hair density and length significantly improved diffusely throughout the scalp without evidence of hypertrichosis. This case underscores the therapeutic potential of topical minoxidil for TRPS, paving the way for improved patient quality of life.

Severe acne and its variants: Exploring its natural history and heritability.

BACKGROUND: Acne vulgaris varies in clinical severity, from minimal comedonal disease to severe hemorrhagic and ulcerative lesions with scarring. While a family history confers a higher risk for developing acne, the correlation between heritability and clinical severity remains unclear. OBJECTIVE: To examine the natural history and heritability of severe acne with scarring in patients undergoing isotretinoin therapy. METHODS: A total of 101 subjects with severe acne with scarring and its variants, including acne conglobata and acne fulminans, were enrolled. All subjects and adult family members underwent an interview regarding their acne, and a corresponding "historical" Investigator's Global Assessment (hIGA) score (0 = clear, 1 = almost clear, 2 = mild, 3 = moderate, 4 = severe, 5 = very severe) was assigned. Study assessors performed an "examination" Investigator's Global Assessment (eIGA) based on the clinical examination of each subject (0 = clear, 1 = almost clear, 2 = mild, 3 = moderate, 4 = severe, 5 = very severe). A detailed family history and pedigree were documented. RESULTS: Most subjects were Caucasian (44.5%) and male (79.2%) who had previously used doxycycline and/or minocycline (86.1%). The mean eIGA and hIGA scores were 2.7 and 4.4, respectively. 37.2% of subjects had one first-degree relative with a history of moderate or severe acne with scarring; of note, of the patients with hemorrhagic disease, 30% had at least one parent with moderate or severe acne. CONCLUSIONS: Severe forms of acne often "cluster" in families, underscoring the heritable nature of acne and the prognostic value of a family history of moderate or severe disease.

Therapeutic education in atopic dermatitis: A position paper from the International Eczema Council.

BACKGROUND: Atopic dermatitis (AD) is a chronic, inflammatory skin disease that affects as many as 12.5% of children aged 0-17 years and 3% of the adult population. In the United States, 31.6 million children and adults are estimated to be living with AD. OBJECTIVE: Therapeutic patient education (TPE) has proven its value in the management of chronic diseases for which adherence to therapy is suboptimal. This article explores experts' opinions and treatment practices to determine if TPE is a recommended and effective method for treating AD. METHODS: Forty-two (51%) of 82 Councilors and Associates of the International Eczema Council (IEC), an international group with expertise in AD, responded to an electronic survey on TPE and AD. RESULTS: Most respondents (97.5%) agreed that TPE should play an important role in the management of AD. Many respondents (82.9%) believed that all patients with AD, regardless of disease severity, could benefit from TPE. LIMITATIONS: The International Eczema Council survey lacks specific information on AD severity. CONCLUSIONS: Publications have shown the positive effect of TPE on the course of the disease, the prevention of complications, and the autonomy and quality of patient life. Survey respondents agreed that TPE can improve the quality of patient care and patient satisfaction with care.

Recurrent herpes labialis in the pediatric population: Prevalence, therapeutic studies, and associated complications.

Recurrent herpes labialis (RHL) is an incredibly common condition, though the medical literature evaluating pediatric aspects is limited. This paper assesses prevalence and therapeutic studies of pediatric RHL as well as disease complications. A comprehensive literature search of English-language citations based on PubMed queries of selected terms was performed, with exclusion if methodology was not discussed, or if studies had 10 or fewer patients. RHL prevalence in pediatrics has been assessed by measures of point and periodic prevalence, though methodologic limitations may under- or over-estimate the true prevalence of RHL. Studies have been conducted to evaluate therapeutic safety, tolerability, and efficacy of antivirals in the pediatric population. Pediatric RHL point prevalence ranges from 0.72% to 5.2% depending on the population study and the methodologies used. Pediatric RHL carries a significant public health burden and is often implicated in patients with eczema herpeticum, erythema multiforme, reactive infectious mucositis eruptions, and hypersensitivity reactions. There are few studies that evaluate the rates of occurrence of these sequelae associated with pediatric RHL.

Atypical Café-au-Lait Macules in a Patient with Koolen-de Vries Syndrome (17q21.31 Microdeletion Syndrome).

Koolen-de Vries syndrome (KdVS), also referred to as the 17q21.31 microdeletion syndrome, is a rare genetic disorder characterized by developmental delay, typical facial dysmorphism, and congenital defects. Associated anomalies include many cutaneous findings. Here, we report a 17-year-old boy with KdVS (17q21.31 microdeletion syndrome) who presented with diffuse freckling and multiple pigmented lesions, found to be most consistent with atypical café-au-lait macules (CALMs) on biopsy. We review the cutaneous findings commonly associated with KdVS (17q21.31 microdeletion syndrome) and propose the addition of diffuse freckling and atypical CALMs, histologically similar to those that may be found in neurofibromatosis type 1, to the cutaneous findings associated with KdVS (17q21.31 microdeletion syndrome).

Evidence-based skin care in preterm infants.

Most guidelines on neonatal skin care emphasize issues pertaining to healthy, term infants. Few address the complex task of skin barrier maintenance in preterm, very preterm, and extremely preterm infants. Here, we provide an evidence-based review of the literature on skin care of preterm neonates. Interestingly, the stratum corneum does not fully develop until late in the third trimester, and as such, the barrier function of preterm skin is significantly compromised. Numerous interventions are available to augment the weak skin barrier of neonates. Plastic wraps reduce the incidence of hypothermia while semipermeable and transparent adhesive dressings improve skin quality and decrease the incidence of electrolyte abnormalities. Tub bathing causes less body temperature variability than sponge bathing and can be performed as infrequently as once every four days without increasing bacterial colonization of the skin. Topical emollients, particularly sunflower seed oil, appear to reduce the incidence of skin infections in premature neonates-but only in developing countries. In developed countries, studies indicate that topical petrolatum ointment increases the risk of candidemia and coagulase-negative Staphylococcus infection in the preterm population, perhaps by creating a milieu similar to occlusive dressings. For preterm infants with catheters, povidone-iodine and chlorhexidine are comparably effective at preventing catheter colonization. Further studies are necessary to examine the safety and efficacy of various skin care interventions in premature infants with an emphasis placed on subclassifying the patient population. In the interim, it may be beneficial to develop guidelines based on the current body of evidence.

Atopic Dermatitis: New Developments.

Herein we review recent developments in our understanding and treatment of atopic dermatitis. Key insights from the recent literature are summarized, from findings on the pathogenesis of this multifactorial disease to a new and more nuanced understanding of its natural history. Therapeutic advances and new data on comorbidities are also discussed.

Recent advances in understanding and preventing peanut and tree nut hypersensitivity.

Peanut allergy, the most persistent and deadly of the food allergies, has become more prevalent worldwide in recent decades. Numerous explanations have been offered for the rise in peanut allergy, which has been more pronounced in Western, industrialized nations. In infants who are at increased risk of peanut allergy, new evidence indicates that early introduction of peanuts can help prevent allergy development. This counterintuitive finding directly contradicts the previously established practice of peanut avoidance for high-risk infants but is supported by clinical and basic science evidence. Here, we review the literature contributing to our evolving understanding of nut allergy, emphasizing the translation of this work to clinical practice.

Hand-foot-skin reaction related to use of the multikinase inhibitor sorafenib and hard orthotics.

Hand-foot-skin reaction is a distinct clinical condition arising in association with the use of multikinase inhibitors, including sorafenib. Because multikinase inhibitors are increasingly being used in children with cancer, recognition of this previously unfamiliar condition is of importance to pediatric dermatologists. We describe the diagnosis and successful treatment of a case of hand-foot-skin reaction in a child taking sorafenib for an unresectable desmoid tumor.

Are antibiotics necessary during routine cystoscopic stent removal?

BACKGROUND: The 2008 American Urological Association (AUA) Best Practice Statement on antimicrobial prophylaxis states that prophylaxis is not warranted for subjects with normal risk profile undergoing cystourethroscopy unless manipulation such as ureteral stent removal is performed. To date no studies have specifically assessed the need for antimicrobial prophylaxis during cystoscopic ureteral stent removal. We sought to determine the risk of infectious complications following cystoscopic stent removal with and without antimicrobial prophylaxis. METHODS: A retrospective review identified 70 subjects who underwent cystoscopic ureteral stent removal following kidney stone treatment, under the care of two separate urologists with differing practice patterns. Each cohort consisted of 35 subjects: with and without prophylactic antibiotics. Clinical variables assessed included demographics, type of stone intervention, prior urinary tract infection (UTI) history, immunocompromising comorbidities, antimicrobial class at time of stone intervention, and antimicrobial administration at cystoscopic stent removal. The primary outcome assessed was development of symptomatic UTI within 4 weeks after stent removal. RESULTS: Overall, 35 patients (50%) received antimicrobial prophylaxis at the time of stent removal and 35 (50%) did not receive antimicrobial prophylaxis, with no demographic or clinical differences between cohorts. Two patients in the antimicrobial cohort (6%) developed a UTI and none of the patients who did not receive antimicrobial prophylaxis developed a UTI (P=0.15). CONCLUSIONS: In our cohort study antimicrobial prophylaxis at the time of cystoscopic stent removal did not appear to provide a significant benefit in UTI prevention. Prospective studies would assist in validating these findings.

Sab (Sh3bp5) dependence of JNK mediated inhibition of mitochondrial respiration in palmitic acid induced hepatocyte lipotoxicity.

BACKGROUND & AIMS: Sustained c-Jun N-terminal kinase (JNK) activation by saturated fatty acids plays a role in lipotoxicity and the pathogenesis of non-alcoholic steatohepatitis (NASH). We have reported that the interaction of JNK with mitochondrial Sab leads to inhibition of respiration, increased reactive oxygen species (ROS), cell death and hepatotoxicity. We tested whether this pathway underlies palmitic acid (PA)-induced lipotoxicity in hepatocytes. METHODS: Primary mouse hepatocytes (PMH) from adeno-shlacZ or adeno-shSab treated mice and HuH7 cells were used. RESULTS: In PMH, PA dose-dependently up to 1mM stimulated oxygen consumption rate (OCR) due to mitochondrial ß-oxidation. At ⩾1.5mM, PA gradually reduced OCR, followed by cell death. Inhibition of JNK, caspases or treatment with antioxidant butylated hydroxyanisole (BHA) protected PMH against cell death. Sab knockdown or a membrane permeable Sab blocking peptide prevented PA-induced mitochondrial impairment, but inhibited only the late phase of both JNK activation (beyond 4h) and cell death. In PMH, PA increased p-PERK and its downstream target CHOP, but failed to activate the IRE-1α arm of the UPR. However, Sab silencing did not affect PA-induced PERK activation. Conversely, specific inhibition of PERK prevented JNK activation and cell death, indicating a major role upstream of JNK activation. CONCLUSIONS: The effect of p-JNK on mitochondria plays a key role in PA-mediated lipotoxicity. The interplay of p-JNK with mitochondrial Sab leads to impaired respiration, ROS production, sustained JNK activation, and apoptosis.

2013 American College of Cardiology/American Heart Association and 2004 Adult Treatment Panel III cholesterol guidelines applied to HIV-infected patients with/without subclinical high-risk coronary plaque.

BACKGROUND: The 2013 American College of Cardiology/American Heart Association (ACC/AHA) cholesterol guidelines are being applied to HIV-infected patients but have not been validated in this at-risk population, which is known to have a high prevalence of subclinical high-risk morphology (HRM) coronary atherosclerotic plaque. OBJECTIVE: To compare recommendations for statins among HIV-infected subjects with/without HRM coronary plaque according to 2013 ACC/AHA versus 2004 Adult Treatment Panel III guidelines. METHODS/DESIGN: Data from 108 HIV-infected subjects without known cardiovascular disease (CVD) or lipid-lowering treatment who underwent contrast-enhanced computed tomography angiography were analyzed. Recommendations for statin therapy according to 2013 versus 2004 guidelines were assessed among those with/without HRM coronary plaque. RESULTS: Among all subjects, 10-year atherosclerotic cardiovascular disease (ASCVD) risk score was 3.3% (1.6, 6.6), yet 36% of subjects had HRM coronary plaque. Among those with HRM coronary plaque, statins would be recommended for 26% by 2013 guidelines versus 10% by 2004 guidelines (P = 0.04). Conversely, among those without HRM coronary plaque, statins would be recommended for 19% by 2013 guidelines versus 7% by 2004 guidelines (P = 0.005). In multivariate modeling, while 10-year ASCVD risk score related to HRM coronary plaque burden (P = 0.02), so too did other factors not incorporated into 2013 guidelines. CONCLUSION: The 2013 ACC/AHA cholesterol guidelines recommend statin therapy for a higher percentage of subjects with and without HRM coronary plaque relative to 2004 guidelines. However, even by 2013 guidelines, statin therapy would not be recommended for the majority (74%) of HIV-infected subjects with subclinical HRM coronary plaque. Outcome studies are needed to determine the utility of new statin recommendations and the contribution of HRM coronary plaque to CVD events among HIV-infected subjects.